Cargando…
ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle
Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease. ATP7A dysfunction leads to copper de...
Autores principales: | Horn, Nina, Wittung-Stafshede, Pernilla |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067471/ https://www.ncbi.nlm.nih.gov/pubmed/33917579 http://dx.doi.org/10.3390/biomedicines9040391 |
Ejemplares similares
-
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations
por: Ariöz, Candan, et al.
Publicado: (2017) -
Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test
por: Møller, Lisbeth Birk, et al.
Publicado: (2008) -
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?
por: Tümer, Zeynep
Publicado: (2015) -
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease
por: Skjørringe, Tina, et al.
Publicado: (2017) -
Chemical catalysis by biological amyloids
por: Wittung-Stafshede, Pernilla
Publicado: (2023)